Paediatric Surgical Complications of Ehlers-Danlos Syndrome

Introduction

Ehlers-Danlos syndrome (EDS) is a group of inherited disorders characterised by abnormalities of the skin, joints and other connective tissues. The cardinal features include cutaneous fragility and hyperextensibility, dystrophic scarring, joint hypermobility and connective tissue weakness. The clinical features of this condition were first described by Van Meek'ren in 1668 and Tschernogubow in 1891. Edward Ehlers thereafter in 1899 and Henri-Alexandre Danlos in 1906 independently reported the classic triad of lax digits, fragile skin and recurrent haematomas. EDS is very heterogeneous on genetic, molecular and clinical grounds. Precise clinical subclassification is important, particularly as some variants have life-threatening associations, requiring appropriate management. EDS type IV is of particular importance to surgeons as it is associated with arterial rupture and visceral perforation, with grave consequences. We present a case in whom the potential association of spontaneous bleeding, albeit in a less likely subtype, was not considered, leading to an unnecessary operation.

• References

• 1 Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet 1998; 77: 31-37
• 2 Burrows NP. The molecular genetics of the Ehlers-Danlos syndrome. Clin Exp Dermatol 1999; 24: 99-106
• 3 Byers PH. Disorders of collagen biosynthesis and structure. Scriver C, Beaudet W, Valle D, eds. The metabolic basis of inherited disease. New York: McGraw-Hill; 1995: 4029-4075
• 4 Byers PH. Ehlers-Danlos syndrome: recent advances and current understanding of the clinical and genetic heterogeneity. J Invest Dermatol 1994; 103: 47S-52S
• 5 Freeman RK, Swegle J, Sise MJ. The surgical complications of Ehlers-Danlos syndrome. Am Surg 1996; 62: 869-873
• 6 Maltz SB, Fantus RJ, Mellett MM, Kirby JP. Surgical complications of Ehlers-Danlos syndrome type IV: case report and review of the literature. J Trauma 2001; 51: 387-390
• 7 McEntyre RL, Raffensperger JG. Surgical complications of Ehlers-Danlos syndrome in children. J Pediatr Surg 1977; 12: 531-535
• 8 Pope FM. Ehlers-Danlos syndrome. Baillieres Clin Rheumatol 1991; 5: 321-349
• 9 Pyeritz RE. Ehlers-Danlos syndrome. N Engl J Med 2000; 342: 730-732
• 10 Steinmann B, Royce P, Superti-Furga A. The Ehlers-Danlos syndrome. Connective tissue and its heritable disorders. New York, NY: Wiley-Liss; 1993: 351-407